Autosomal dominant neovascular inflammatory vitreoretinopathy — a case series

Abstract

The objective of our study was to report the course of the disease in a family affected with autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV, OMIM#193235). ADNIV is a very rare inherited blinding disease due to mutations in CAPN5 gene. We assembled a retrospective observational case series of ADNIV patients. We noticed first symptoms in different ages, similar course of the disease and its progression leading in most cases to complete blindness despite treatment.